NP_001165464.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
4-hydroxyphenylpyruvate dioxygenase isoform 2
NCBI Official Synonym Full Names
4-hydroxyphenylpyruvate dioxygenase
NCBI Official Synonym Symbols
PPD; 4HPPD; GLOD3; 4-HPPD; HPPDASE [Similar Products]
NCBI Protein Information
4-hydroxyphenylpyruvate dioxygenase
UniProt Protein Name
4-hydroxyphenylpyruvate dioxygenase
UniProt Synonym Protein Names
4-hydroxyphenylpyruvic acid oxidase; 4HPPD; HPD; HPPDase
UniProt Synonym Gene Names
UniProt Entry Name
HPPD_HUMAN
NCBI Summary for HPD
The protein encoded by this gene is an enzyme in the catabolic pathway of tyrosine. The encoded protein catalyzes the conversion of 4-hydroxyphenylpyruvate to homogentisate. Defects in this gene are a cause of tyrosinemia type 3 (TYRO3) and hawkinsinuria (HAWK). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
UniProt Comments for HPD
HPD: Key enzyme in the degradation of tyrosine. Defects in HPD are the cause of tyrosinemia type 3 (TYRO3). TYRO3 is an inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, seizures and mild mental retardation. Defects in HPD are a cause of hawkinsinuria (HAWK). HAWK is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin, in the urine. Belongs to the 4HPPD family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: EC 1.13.11.27; Amino Acid Metabolism - phenylalanine; Oxidoreductase; Cofactor and Vitamin Metabolism - ubiquinone and other terpenoid-quinone biosynthesis; Amino Acid Metabolism - tyrosine
Chromosomal Location of Human Ortholog: 12q24.31
Cellular Component: cytosol
Molecular Function: 4-hydroxyphenylpyruvate dioxygenase activity; metal ion binding
Biological Process: L-phenylalanine catabolic process; tyrosine catabolic process
Disease: Hawkinsinuria; Tyrosinemia, Type Iii
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Products associated with anti-HPD antibody
Pathways associated with anti-HPD antibody
Products by Pathway |
Pathway Diagram |
Histidine, Lysine, Phenylalanine, Tyrosine, Proline And Tryptophan Catabolism Pathway antibodies |
Histidine, Lysine, Phenylalanine, Tyrosine, Proline And Tryptophan Catabolism Pathway Diagram |
L-phenylalanine Degradation IV (mammalian, Via Side Chain) Pathway antibodies |
L-phenylalanine Degradation IV (mammalian, Via Side Chain) Pathway Diagram |
L-tyrosine Degradation I Pathway antibodies |
L-tyrosine Degradation I Pathway Diagram |
Metabolic Pathways antibodies |
Metabolic Pathways Diagram |
Metabolism Pathway antibodies |
Metabolism Pathway Diagram |
Metabolism Of Amino Acids And Derivatives Pathway antibodies |
Metabolism Of Amino Acids And Derivatives Pathway Diagram |
Phenylalanine And Tyrosine Catabolism Pathway antibodies |
Phenylalanine And Tyrosine Catabolism Pathway Diagram |
Phenylalanine Metabolism Pathway antibodies |
Phenylalanine Metabolism Pathway Diagram |
Phenylalanine Metabolism Pathway antibodies |
Phenylalanine Metabolism Pathway Diagram |
Tyrosine Degradation, Tyrosine => Homogentisate Pathway antibodies |
Tyrosine Degradation, Tyrosine => Homogentisate Pathway Diagram |
Diseases associated with anti-HPD antibody
Organs/Tissues associated with anti-HPD antibody
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